TY - JOUR AU - M’hamdi, O. AU - Ouertani, I. AU - Chaabouni-Bouhamed, H. PY - 2014 DA - 2014// TI - Update on the genetics of bardet-biedl syndrome JO - Mol Syndromol VL - 5 UR - https://doi.org/10.1159/000357054 DO - 10.1159/000357054 ID - M’hamdi2014 ER - TY - JOUR AU - Zaghloul, N. A. AU - Katsanis, N. PY - 2009 DA - 2009// TI - Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy JO - J Clin Invest VL - 119 UR - https://doi.org/10.1172/JCI37041 DO - 10.1172/JCI37041 ID - Zaghloul2009 ER - TY - JOUR AU - Beales, P. L. AU - Elcioglu, N. AU - Woolf, A. S. AU - Parker, D. AU - Flinter, F. A. PY - 1999 DA - 1999// TI - New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey JO - J Med Genet VL - 36 ID - Beales1999 ER - TY - JOUR AU - Beales, P. L. AU - Katsanis, N. AU - Lewis, R. A. AU - Ansley, S. J. AU - Elcioglu, N. AU - Raza, J. PY - 2001 DA - 2001// TI - Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci JO - Am J Hum Genet VL - 68 UR - https://doi.org/10.1086/318794 DO - 10.1086/318794 ID - Beales2001 ER - TY - JOUR AU - M’hamdi, O. AU - Ouertani, I. AU - Maazoul, F. AU - Chaabouni, H. PY - 2011 DA - 2011// TI - Prevalence of Bardet-Biedl syndrome in Tunisia JO - J Community Genet VL - 2 UR - https://doi.org/10.1007/s12687-011-0040-6 DO - 10.1007/s12687-011-0040-6 ID - M’hamdi2011 ER - TY - JOUR AU - Farag, T. I. AU - Teebi, A. S. PY - 1989 DA - 1989// TI - High incidence of Bardet-Biedl syndrome among the Bedouin JO - Clin Genet VL - 36 UR - https://doi.org/10.1111/j.1399-0004.1989.tb03378.x DO - 10.1111/j.1399-0004.1989.tb03378.x ID - Farag1989 ER - TY - JOUR AU - Moore, S. J. AU - Green, J. S. AU - Fan, Y. AU - Bhogal, A. K. AU - Dicks, E. AU - Fernandez, B. A. PY - 2005 DA - 2005// TI - Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22 year prospective, population-based, cohort study JO - Am J Med Genet A VL - 132 UR - https://doi.org/10.1002/ajmg.a.30406 DO - 10.1002/ajmg.a.30406 ID - Moore2005 ER - TY - JOUR AU - Redin, C. AU - Gras, S. AU - Mhamdi, O. AU - Geoffroy, V. AU - Stoetzel, C. AU - Vincent, M. C. PY - 2012 DA - 2012// TI - Targeted high-throughput sequencing for molecular diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedel and Alström syndromes JO - J Med Genet VL - 49 UR - https://doi.org/10.1136/jmedgenet-2012-100875 DO - 10.1136/jmedgenet-2012-100875 ID - Redin2012 ER - TY - JOUR AU - Scheidecker, S. AU - Etard, C. AU - Pierce, N. W. AU - Geoffroy, V. AU - Schaefer, E. AU - Muller, J. PY - 2014 DA - 2014// TI - Exome sequencing of Bardet- Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) JO - J Med Genet VL - 51 UR - https://doi.org/10.1136/jmedgenet-2013-101785 DO - 10.1136/jmedgenet-2013-101785 ID - Scheidecker2014 ER - TY - JOUR AU - M’hamdi, O. AU - Redin, C. AU - Stoetzel, C. AU - Ouertani, I. AU - Chaabouni, M. AU - Maazoul, F. PY - 2014 DA - 2014// TI - Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis JO - Clin Genet VL - 85 UR - https://doi.org/10.1111/cge.12129 DO - 10.1111/cge.12129 ID - M’hamdi2014 ER - TY - JOUR AU - Aldahmesh, M. A. AU - Li, Y. AU - Alhashem, A. AU - Anazi, S. AU - Alkuraya, H. AU - Hashem, M. PY - 2014 DA - 2014// TI - IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome JO - Hum Mol Genet VL - 23 UR - https://doi.org/10.1093/hmg/ddu044 DO - 10.1093/hmg/ddu044 ID - Aldahmesh2014 ER - TY - JOUR AU - Nachury, M. V. AU - Loktev, A. V. AU - Zhang, Q. AU - Westlake, C. J. AU - Peranen, J. AU - Merdes, A. PY - 2007 DA - 2007// TI - A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis JO - Cell VL - 129 UR - https://doi.org/10.1016/j.cell.2007.03.053 DO - 10.1016/j.cell.2007.03.053 ID - Nachury2007 ER - TY - JOUR AU - Forsythe, E. AU - Beales, P. L. PY - 2013 DA - 2013// JO - Eur J Hum Genet VL - 21 UR - https://doi.org/10.1038/ejhg.2012.115 DO - 10.1038/ejhg.2012.115 ID - Forsythe2013 ER - TY - JOUR AU - Janssen, S. AU - Ramaswami, G. AU - Davis, E. E. AU - Hurd, T. AU - Airik, R. AU - Kasanuki, J. M. PY - 2011 DA - 2011// TI - Mutations analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals JO - Hum Genet VL - 129 UR - https://doi.org/10.1007/s00439-010-0902-8 DO - 10.1007/s00439-010-0902-8 ID - Janssen2011 ER - TY - JOUR AU - Smaoui, N. AU - Chaabouni, M. AU - Sergeev, Y. V. AU - Kallel, H. AU - Li, S. AU - Mahfoudh, N. PY - 2006 DA - 2006// TI - Screening of the eight BBS genes in Tunisian families: no evidence of triallelism JO - Invest Ophthalmol Vis Sci VL - 47 UR - https://doi.org/10.1167/iovs.05-1334 DO - 10.1167/iovs.05-1334 ID - Smaoui2006 ER - TY - JOUR AU - Abu Safieh, L. AU - Aldahmesh, M. A. AU - Shamseldin, H. AU - Hashem, M. AU - Shaheen, R. AU - Alkuraya, H. PY - 2010 DA - 2010// TI - Clinical and molecular characterization of Bardet-Biedl syndrome in consanguineous populations: The power of homozygosity mapping JO - J Med Genet VL - 47 UR - https://doi.org/10.1136/jmg.2009.070755 DO - 10.1136/jmg.2009.070755 ID - Abu Safieh2010 ER - TY - JOUR AU - Abu Safieh, L. AU - Al-Anazi, S. AU - Al-Abdi, L. AU - Hashem, M. AU - Alkuraya, H. AU - Alamr, M. PY - 2012 DA - 2012// TI - In search of triallelism in Bardet-Biedl syndrome JO - Eur J Hum Genet VL - 20 UR - https://doi.org/10.1038/ejhg.2011.205 DO - 10.1038/ejhg.2011.205 ID - Abu Safieh2012 ER - TY - JOUR AU - Ajmal, M. AU - Khan, M. I. AU - Neveling, K. AU - Tayyab, A. AU - Jaffar, S. AU - Sadeque, A. PY - 2013 DA - 2013// TI - Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedlsyndrome JO - Mol Vis VL - 19 ID - Ajmal2013 ER - TY - JOUR AU - Khan, S. AU - Ullah, I. AU - Irfanullah AU - Touseef, M. AU - Basit, S. AU - Khan, M. N. PY - 2013 DA - 2013// TI - Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome JO - Gene VL - 515 UR - https://doi.org/10.1016/j.gene.2012.11.023 DO - 10.1016/j.gene.2012.11.023 ID - Khan2013 ER - TY - JOUR AU - Agha, Z. AU - Iqbal, Z. AU - Azam, M. AU - Hoefsloot, L. H. AU - Bokhoven, H. AU - Qamar, R. PY - 2013 DA - 2013// TI - A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family JO - Gene VL - 519 UR - https://doi.org/10.1016/j.gene.2013.01.047 DO - 10.1016/j.gene.2013.01.047 ID - Agha2013 ER - TY - JOUR AU - Pawlik, B. AU - Mir, A. AU - Iqbal, H. AU - Li, Y. AU - Nürnberg, G. AU - Becker, C. PY - 2010 DA - 2010// TI - A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostics Strategies JO - Mol Syndromol VL - 1 UR - https://doi.org/10.1159/000276763 DO - 10.1159/000276763 ID - Pawlik2010 ER - TY - JOUR AU - Matise, T. C. AU - Chen, F. AU - Chen, W. AU - Vega, F. M. AU - Hansen, M. AU - He, C. PY - 2007 DA - 2007// TI - A second-generation combined linkage physical map of the human genome JO - Genome Res VL - 17 UR - https://doi.org/10.1101/gr.7156307 DO - 10.1101/gr.7156307 ID - Matise2007 ER - TY - JOUR AU - Lindner, T. H. AU - Hoffmann, K. PY - 2005 DA - 2005// TI - easyLINKAGE: A PERL script for easy and automated two-/multi-point linkage analyses JO - Bioinformatics VL - 21 UR - https://doi.org/10.1093/bioinformatics/bti009 DO - 10.1093/bioinformatics/bti009 ID - Lindner2005 ER - TY - JOUR AU - Rozen, S. AU - Skaletsky, H. PY - 2000 DA - 2000// TI - Primer3 on the WWW for general users and for biologist programmers JO - Methods Mol Biol VL - 132 ID - Rozen2000 ER - TY - JOUR AU - Kent, W. J. PY - 2002 DA - 2002// TI - BLAT - the BLAST-like alignment tool JO - Genome Res VL - 12 UR - https://doi.org/10.1101/gr.229202. Article published online before March 2002 DO - 10.1101/gr.229202. Article published online before March 2002 ID - Kent2002 ER - TY - JOUR AU - Andrade, L. J. AU - Andrade, R. AU - França, C. S. AU - Bittencourt, A. V. PY - 2009 DA - 2009// TI - Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review JO - Arq Bras Oftalmol VL - 72 UR - https://doi.org/10.1590/S0004-27492009000500019 DO - 10.1590/S0004-27492009000500019 ID - Andrade2009 ER - TY - JOUR AU - Hemachandar, R. PY - 2015 DA - 2015// TI - Bardet-Biedl syndrome: A rare cause of end stage renal disease JO - Int J Appl Basic Med Res VL - 5 UR - https://doi.org/10.4103/2229-516X.149254 DO - 10.4103/2229-516X.149254 ID - Hemachandar2015 ER - TY - JOUR AU - Veleri, S. AU - Bishop, K. AU - Dalle Nogare, D. E. AU - English, M. A. AU - Foskett, T. J. AU - Chitnis, A. PY - 2012 DA - 2012// TI - Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects JO - PLoS One VL - 7 UR - https://doi.org/10.1371/journal.pone.0034389 DO - 10.1371/journal.pone.0034389 ID - Veleri2012 ER - TY - JOUR AU - Vernon, E. G. AU - Malik, K. AU - Reynolds, P. AU - Powlesland, R. AU - Dallosso, A. R. AU - Jackson, S. PY - 2003 DA - 2003// TI - The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms’ tumour JO - Oncogene VL - 22 UR - https://doi.org/10.1038/sj.onc.1206332 DO - 10.1038/sj.onc.1206332 ID - Vernon2003 ER - TY - STD TI - 1- UniProtKB URL: http://www.uniprot.org. UR - http://www.uniprot.org ID - ref30 ER - TY - STD TI - 2- String Database (Known and predicted protein-protein interactions) URL: http://string-db.org/. UR - http://string-db.org/ ID - ref31 ER - TY - STD TI - 3- Human Gene Mutation Database URL: http://www.hgmd.cf.ac.uk/ac/index.php. UR - http://www.hgmd.cf.ac.uk/ac/index.php ID - ref32 ER - TY - STD TI - 4- exome variant server URL: http://exac.broadinstitute.org/. UR - http://exac.broadinstitute.org/ ID - ref33 ER - TY - STD TI - 5- exome aggregation consortium URL: http://evs.gs.washington.edu/EVS/. UR - http://evs.gs.washington.edu/EVS/ ID - ref34 ER - TY - STD TI - 6- The Singapore Human Mutation and Polymorphism database URL: http://shmpd.bii.a-star.edu.sg/. UR - http://shmpd.bii.a-star.edu.sg/ ID - ref35 ER - TY - STD TI - 7- Indian Genetic Disease database URL: http://www.igdd.iicb.res.in/IGDD/home.aspx. UR - http://www.igdd.iicb.res.in/IGDD/home.aspx ID - ref36 ER -